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Monogenic hearing loss v2.227 COL9A1 Eleanor Williams Tag for-review was removed from gene: COL9A1.
Monogenic hearing loss v2.221 COL9A1 Eleanor Williams commented on gene: COL9A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.220 COL9A1 Eleanor Williams Source Expert Review Green was added to COL9A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.204 COL9A1 Arina Puzriakova Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; hearing loss to Stickler syndrome, type IV, OMIM:614134; Hearing loss
Monogenic hearing loss v2.203 COL9A1 Arina Puzriakova Mode of inheritance for gene: COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v2.146 COL9A3 Eleanor Williams commented on gene: COL9A3: Removed the for-review tag as this gene is not a candidate for promoting to green as there are only two cases. However, once a decision is made about including Stickler syndrome green genes (e.g. COL9A1) or not on this panel, this gene may need further revision as regards to rating.
Monogenic hearing loss v2.81 COL9A1 Eleanor Williams changed review comment from: Associated with Stickler syndrome, type IV #614134 in OMIM. No inheritance given.

Summary: 1 Turkish and 2 distantly related Moroccan families with frameshift COL9A1 variants and Stickler syndrome. 2 cases of non-syndromic hearing loss (1 missense, 1 in-frame deletion of several exons).

PMID: 16909383 Van Camp et al 2006 - report a family of Moroccan origin with 4 children affected by Stickler syndrome and 6 unaffected children. The distantly related parents are unaffected. The 4 children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. Targeted analysis of COL9A1 resulted in the identification of a homozygous R295X variant in the four affected children. 4 unaffected children and the parents were heterozygous carriers. Two unaffected children did not carry the variant at all.

PMID: 21421862 - Nikopoulos et al 2011 - Report two consanguineous families with children with Stickler syndrome. One Turkish family has two affected sisters, the other Moroccan family has one affected boy. The Turkish girls were found to have a homozygous COL9A1 mutation (p.R507X) while the Moroccan boy had the same variant found in the Moroccan family published by Van Camp et al 2006 (p.R295X). Phenotypic features include myopia, cataracts, distinct vitreous changes, progressive chorioretinal degeneration, and exudative and rhegmatogenous retinal detachments. All three had sensorineural hearing loss and epiphyseal dysplasia. Haplotype analysis of the Moroccan family showed they shared the identical disease haplotype in the 2-cM area encompassing COL9A1 as the previously described Moroccan family, indicating a possible relationship.

PMID: 23967202 - Miyagawa et al 2013 - report one case of a missense variant (NM_001851.3, c.2395G>C, p.G799R)in COL9A1 in a patient with sporadic early onset hearing loss, identified by targeted exome sequencing. Detailed phenotype information not available.

PMID: 31315069 - Hofrichter et al 2019 - report 2 patients with non-syndromic HL from an Iranian family. Both siblings were homozygous for a 44.6 kb in-frame deletion spanning exons 6 to 33 of COL9A1. The parents were heterozygous for the deletion. The initially presented non-syndromic HL at the age of 28 years, but clinical follow up has not been undertaken.; to: Associated with Stickler syndrome, type IV #614134 in OMIM. No inheritance given.

Summary: 1 Turkish and 1 unknown ethnicity family with R507X variants and 2 distantly related Moroccan families with R295X COL9A1 variants and Stickler syndrome. 2 cases of non-syndromic hearing loss (1 missense, 1 in-frame deletion of several exons).

PMID: 16909383 Van Camp et al 2006 - report a family of Moroccan origin with 4 children affected by Stickler syndrome and 6 unaffected children. The distantly related parents are unaffected. The 4 children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. Targeted analysis of COL9A1 resulted in the identification of a homozygous R295X variant in the four affected children. 4 unaffected children and the parents were heterozygous carriers. Two unaffected children did not carry the variant at all.

PMID: 21421862 - Nikopoulos et al 2011 - Report two consanguineous families with children with Stickler syndrome. One Turkish family has two affected sisters, the other Moroccan family has one affected boy. The Turkish girls were found to have a homozygous COL9A1 mutation (p.R507X) while the Moroccan boy had the same variant found in the Moroccan family published by Van Camp et al 2006 (p.R295X). Phenotypic features include myopia, cataracts, distinct vitreous changes, progressive chorioretinal degeneration, and exudative and rhegmatogenous retinal detachments. All three had sensorineural hearing loss and epiphyseal dysplasia. Haplotype analysis of the Moroccan family showed they shared the identical disease haplotype in the 2-cM area encompassing COL9A1 as the previously described Moroccan family, indicating a possible relationship.

PMID: 23967202 - Miyagawa et al 2013 - report one case of a missense variant (NM_001851.3, c.2395G>C, p.G799R)in COL9A1 in a patient with sporadic early onset hearing loss, identified by targeted exome sequencing. Detailed phenotype information not available.

PMID: 31315069 - Hofrichter et al 2019 - report 2 patients with non-syndromic HL from an Iranian family. Both siblings were homozygous for a 44.6 kb in-frame deletion spanning exons 6 to 33 of COL9A1. The parents were heterozygous for the deletion. The initially presented non-syndromic HL at the age of 28 years, but clinical follow up has not been undertaken.

PMID: 31090205 - Nixon et al 2019 - report 1 case of a 6 year old child with a homozygous nonsense variant in COL9A1 (c.1519C>T, p.(Arg507Ter)) and a diagnosis of Stickler syndrome. This variant has been described previously (Nikopoulos et al., 2011). The child had high‐frequency sensorineural hearing loss.
Monogenic hearing loss v2.77 COL9A1 Eleanor Williams Tag for-review tag was added to gene: COL9A1.
Monogenic hearing loss v2.77 COL9A1 Eleanor Williams Classified gene: COL9A1 as Amber List (moderate evidence)
Monogenic hearing loss v2.77 COL9A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber, but maybe appropriate for green rating following GMS review.
Monogenic hearing loss v2.77 COL9A1 Eleanor Williams Gene: col9a1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v2.76 COL9A1 Eleanor Williams Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135Stickler syndrome, type IV, 614134; Epiphysealdysplasia,multiple,6,614135Sticklersyndrome,typeIV,614134 to Stickler syndrome, type IV, 614134; hearing loss
Monogenic hearing loss v2.75 COL9A1 Eleanor Williams Publications for gene: COL9A1 were set to
Monogenic hearing loss v2.74 COL9A1 Eleanor Williams changed review comment from: Associated with Stickler syndrome, type IV #614134 in OMIM. No inheritance given.

Summary: 1 Turkish and 2 distantly related Moroccan families with frameshift COL9A1 variants and Stickler syndrome. 2 cases on non-syndromic hearing loss (1 missense, 1 in-frame deletion of several exons).

PMID: 16909383 Van Camp et al 2006 - report a family of Moroccan origin with 4 children affected by Stickler syndrome and 6 unaffected children. The distantly related parents are unaffected. The 4 children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. Targeted analysis of COL9A1 resulted in the identification of a homozygous R295X variant in the four affected children. 4 unaffected children and the parents were heterozygous carriers. Two unaffected children did not carry the variant at all.

PMID: 21421862 - Nikopoulos et al 2011 - Report two consanguineous families with children with Stickler syndrome. One Turkish family has two affected sisters, the other Moroccan family has one affected boy. The Turkish girls were found to have a homozygous COL9A1 mutation (p.R507X) while the Moroccan boy had the same variant found in the Moroccan family published by Van Camp et al 2006 (p.R295X). Phenotypic features include myopia, cataracts, distinct vitreous changes, progressive chorioretinal degeneration, and exudative and rhegmatogenous retinal detachments. All three had sensorineural hearing loss and epiphyseal dysplasia. Haplotype analysis of the Moroccan family showed they shared the identical disease haplotype in the 2-cM area encompassing COL9A1 as the previously described Moroccan family, indicating a possible relationship.

PMID: 23967202 - Miyagawa et al 2013 - report one case of a missense variant (NM_001851.3, c.2395G>C, p.G799R)in COL9A1 in a patient with sporadic early onset hearing loss, identified by targeted exome sequencing. Detailed phenotype information not available.

PMID: 31315069 - Hofrichter et al 2019 - report 2 patients with non-syndromic HL from an Iranian family. Both siblings were homozygous for a 44.6 kb in-frame deletion spanning exons 6 to 33 of COL9A1. The parents were heterozygous for the deletion. The initially presented non-syndromic HL at the age of 28 years, but clinical follow up has not been undertaken.; to: Associated with Stickler syndrome, type IV #614134 in OMIM. No inheritance given.

Summary: 1 Turkish and 2 distantly related Moroccan families with frameshift COL9A1 variants and Stickler syndrome. 2 cases of non-syndromic hearing loss (1 missense, 1 in-frame deletion of several exons).

PMID: 16909383 Van Camp et al 2006 - report a family of Moroccan origin with 4 children affected by Stickler syndrome and 6 unaffected children. The distantly related parents are unaffected. The 4 children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. Targeted analysis of COL9A1 resulted in the identification of a homozygous R295X variant in the four affected children. 4 unaffected children and the parents were heterozygous carriers. Two unaffected children did not carry the variant at all.

PMID: 21421862 - Nikopoulos et al 2011 - Report two consanguineous families with children with Stickler syndrome. One Turkish family has two affected sisters, the other Moroccan family has one affected boy. The Turkish girls were found to have a homozygous COL9A1 mutation (p.R507X) while the Moroccan boy had the same variant found in the Moroccan family published by Van Camp et al 2006 (p.R295X). Phenotypic features include myopia, cataracts, distinct vitreous changes, progressive chorioretinal degeneration, and exudative and rhegmatogenous retinal detachments. All three had sensorineural hearing loss and epiphyseal dysplasia. Haplotype analysis of the Moroccan family showed they shared the identical disease haplotype in the 2-cM area encompassing COL9A1 as the previously described Moroccan family, indicating a possible relationship.

PMID: 23967202 - Miyagawa et al 2013 - report one case of a missense variant (NM_001851.3, c.2395G>C, p.G799R)in COL9A1 in a patient with sporadic early onset hearing loss, identified by targeted exome sequencing. Detailed phenotype information not available.

PMID: 31315069 - Hofrichter et al 2019 - report 2 patients with non-syndromic HL from an Iranian family. Both siblings were homozygous for a 44.6 kb in-frame deletion spanning exons 6 to 33 of COL9A1. The parents were heterozygous for the deletion. The initially presented non-syndromic HL at the age of 28 years, but clinical follow up has not been undertaken.
Monogenic hearing loss v2.74 COL9A1 Eleanor Williams reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 23967202, 31315069; Phenotypes: Stickler syndrome, type IV, 614134, hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v2.4 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes